I43V (p.Ile43Val) variant of KCNA1 (Q09470)
I43V (p.Ile43Val) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
I43V (p.Ile43Val) variant details
- p.Ile43Val
- gnomAD 12-4911505-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.13
- MetaLR 0.05
- MetaSVM -0.98
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available